SALSA MLPA P028 FHL probemix - 100 reactions

application: Familial lymphohistiocytosis (HLH)
region: UNC13D 17q25.1, PRF1 10q22.1, STX11 6q24.2 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P028-100R

Nejnovější informace o produktu naleznete exklusivně na stránkách výrobce MRC-Holland www.mlpa.com (nové okno)

Detailní popis SALSA MLPA P028 FHL probemix - 100 reactions

P028-100R SALSA MLPA P028 FHL probemix – 100 rxn

Hemophagocytic lymphohistiocytosis (HLH) is a rare autosomal recessive disorder characterised by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly and cytopenia. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a  rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained. Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation.

Mutations in the UNC13D gene are associated with familial hemophagocytic lymphohistiocytosis type 3. The UNC13D gene (32 exons) spans ~17 kb of genomic DNA and is located on 17q25.1, ~73 Mb from the p-telomere. Defects in the PRF1 gene cause familial hemophagocytic lymphohistiocytosis type 2 (FHL2), a rare and lethal autosomal recessive disorder of early childhood. The PRF1 gene (3 exons) spans ~5 kb of genomic DNA and is located on 10q22.1, 72 Mb from the p-telomere. Defects in the STX11 gene cause familial hemophagocytic lymphohistiocytosis (FHL4). The STX11 gene (2 exons) spans ~41 kb of genomic DNA and is located on 6q24.2, 144 Mb from the p-telomere.

The P028-A1 probemix contains one probe for each exon of the UNC13D gene with the exception of exon 11, 17, 20 and 26, one probe for each exon of the PRF1 gene and one probe for each exon of the STX11 gene. In addition, 10 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned gene(s). Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak area, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.

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